Variant report

Variant	nsv517046
Chromosome Location	chr3:53026714-53046216
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:53029648..53031787-chr3:53078604..53081365,2	MCF-7	breast:
2	chr3:53045411..53048406-chr3:53050370..53052257,2	K562	blood:
3	chr3:53037209..53039730-chr3:53079605..53081876,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163935	chromatin interactions

Extended variants
information (count: 742 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:742 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2115779	chr3:53026714-53026715	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs189190019	chr3:53026792-53026793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531940485	chr3:53026834-53026835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545496427	chr3:53026870-53026871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs558995979	chr3:53026904-53026905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528290939	chr3:53027025-53027026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181344143	chr3:53027108-53027109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs141435694	chr3:53027112-53027113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs74481666	chr3:53027124-53027125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs74625319	chr3:53027126-53027127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536346241	chr3:53027140-53027141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs116522183	chr3:53027157-53027158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs550855703	chr3:53027184-53027185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570863290	chr3:53027226-53027227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs539818060	chr3:53027234-53027235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553522290	chr3:53027244-53027245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566938437	chr3:53027311-53027312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs371529083	chr3:53027313-53027314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535696365	chr3:53027376-53027377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555923358	chr3:53027545-53027546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575887588	chr3:53027562-53027563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572934270	chr3:53027575-53027576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544514500	chr3:53027614-53027615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs145273650	chr3:53027621-53027622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs576453367	chr3:53027667-53027668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs534004796	chr3:53027703-53027704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs186491736	chr3:53027704-53027705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559212043	chr3:53027755-53027756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575067690	chr3:53027768-53027769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs528185418	chr3:53027825-53027826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs117644264	chr3:53027833-53027834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs147644536	chr3:53027873-53027874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs537083728	chr3:53027877-53027878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs141929218	chr3:53027898-53027899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs77937084	chr3:53027907-53027908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550913299	chr3:53027957-53027958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs2246556	chr3:53027983-53027984	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs114914174	chr3:53028002-53028003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs546997830	chr3:53028020-53028021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs190150043	chr3:53028038-53028039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs181563764	chr3:53028054-53028055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs2336720	chr3:53028061-53028062	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs569438912	chr3:53028066-53028067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs13326633	chr3:53028090-53028091	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs545910094	chr3:53028124-53028125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs60579787	chr3:53028161-53028162	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs577901944	chr3:53028191-53028192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs539092750	chr3:53028208-53028209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs185927570	chr3:53028231-53028232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536308277	chr3:53028236-53028237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21785460	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Septo-optic dysplasia	21572526	CNVD
Biliary cancer	19435499	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
Ventriculomegaly	21325761	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Lung cancer	16618734	CNVD
Neuroblastoma	19686582	CNVD
Renal cell carcinoma	18765545	CNVD
Adrenocortical carcinoma	18281524	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:237 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52965000-53039800	Weak transcription	Left Ventricle	heart
2	chr3:53008400-53031000	Weak transcription	Hela-S3	cervix
3	chr3:53012600-53032600	Weak transcription	Pancreas	Pancrea
4	chr3:53016200-53029400	Weak transcription	Fetal Intestine Small	intestine
5	chr3:53018000-53030400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr3:53018000-53044200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr3:53018200-53045200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr3:53018600-53032800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr3:53019000-53057200	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr3:53019200-53032800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr3:53019200-53039600	Weak transcription	GM12878-XiMat	blood
12	chr3:53019600-53056400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr3:53019800-53044400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr3:53020600-53057000	Weak transcription	Dnd41	blood
15	chr3:53022600-53030600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr3:53022600-53043000	Weak transcription	Primary B cells from peripheral blood	blood
17	chr3:53022600-53050400	Weak transcription	Primary B cells from cord blood	blood
18	chr3:53024400-53026800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr3:53025200-53032600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr3:53025200-53039000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr3:53025400-53026800	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr3:53025600-53061600	Weak transcription	Lung	lung
23	chr3:53026200-53032600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr3:53026200-53037800	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr3:53026200-53042400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr3:53026200-53044200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr3:53026800-53027200	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr3:53026800-53028600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr3:53027200-53043400	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr3:53027600-53061600	Weak transcription	Liver	Liver
31	chr3:53027800-53051000	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr3:53028000-53032800	Weak transcription	Esophagus	oesophagus
33	chr3:53028400-53044200	Weak transcription	Adipose Nuclei	Adipose
34	chr3:53028600-53032600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr3:53028800-53032400	Weak transcription	Fetal Stomach	stomach
36	chr3:53029400-53029600	Enhancers	A549	lung
37	chr3:53029400-53030600	Strong transcription	Fetal Intestine Small	intestine
38	chr3:53029600-53033200	Weak transcription	A549	lung
39	chr3:53029800-53032800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr3:53030000-53033200	Weak transcription	Brain Angular Gyrus	brain
41	chr3:53030200-53034200	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr3:53030200-53059400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr3:53030400-53030800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr3:53030400-53052400	Weak transcription	Primary T cells from cord blood	blood
45	chr3:53030600-53031400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr3:53030600-53031400	Weak transcription	Fetal Intestine Small	intestine
47	chr3:53030800-53050400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr3:53031000-53031400	Enhancers	Brain Cingulate Gyrus	brain
49	chr3:53031000-53031400	Enhancers	Hela-S3	cervix
50	chr3:53031000-53033200	Weak transcription	Gastric	stomach

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